Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype (Q43075439)
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scientific article published in February 2001
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English | Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype |
scientific article published in February 2001 |
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Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype (English)
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Nicholls AC
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Valler D
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Wallis S
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Pope FM
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1 February 2001
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38
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132-136
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